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Diagnosis and preoperative imaging of multiple endocrine neoplasia type 2: current status and future directions
David Taïeb1, Electron Kebebew, Fréderic Castinetti
1Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France.
Abstract:
Multiple endocrine neoplasia type 2 (MEN2) is a rare autosomal dominant syndrome caused by mutations in the RET protooncogene and is characterized by a strong penetrance of medullary thyroid carcinoma (all subtypes) and is often accompanied by pheochromocytoma (MEN2A/2B) and primary hyperparathyroidism (MEN2A). The evaluation and management of MEN2-related tumours is often different from that of sporadic counterparts. This review article provides an overview of clinical manifestations, diagnosis and surgical management of MEN2 patients. This review also presents applications of the most up-to-date imaging modalities to MEN2 patients that are tightly linked to the clinical management and aims to guide physicians towards a rationale for the use of imaging prior to prophylactic thyroidectomy, initial surgery and reoperations for persistent/recurrent disease. This review also concludes that, in the near future, it is expected that these patients will indeed benefit from newly developed positron emission tomography approaches which will target peptide receptors and protein kinases. Identification of MEN2-specific radiopharmaceuticals will also soon arise from molecular profiling studies. Furthermore, subtotal (cortical-sparing) adrenalectomy, which is a valid option in MEN2 for avoiding long-term steroid replacement, will benefit from an accurate estimation through imaging of differential adrenocortical function.
Insights
Multiple endocrine neoplasia type 2 (MEN2) management requires tailored approaches due to its genetic basis. This review details clinical features, diagnosis, and surgical strategies, emphasizing advanced imaging for optimal patient care.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia type 2 (MEN2) is a rare autosomal dominant syndrome.
- Caused by RET protooncogene mutations, MEN2 presents with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
- MEN2-related tumors require distinct management compared to sporadic tumors.
Purpose of the Study:
- To provide an overview of clinical manifestations, diagnosis, and surgical management of MEN2 patients.
- To present the applications of advanced imaging modalities in MEN2 patient management.
- To guide physicians on the rationale for imaging use in various surgical scenarios.
Main Methods:
- Review of clinical manifestations, diagnostic criteria, and surgical management strategies for MEN2.
- Analysis of current and emerging imaging modalities for MEN2 tumor detection and monitoring.
- Discussion of the role of imaging in prophylactic thyroidectomy, initial surgery, and reoperations.
Main Results:
- MEN2 diagnosis and management differ significantly from sporadic tumors.
- Advanced imaging plays a crucial role in guiding surgical decisions for MEN2 patients.
- Emerging PET-based approaches and molecular profiling promise improved diagnostic and therapeutic strategies.
Conclusions:
- Optimal management of MEN2 necessitates a comprehensive understanding of its genetic basis and clinical spectrum.
- Advanced imaging techniques are essential for precise diagnosis, surgical planning, and monitoring of MEN2-related conditions.
- Future advancements in molecular imaging and targeted therapies are expected to further enhance patient outcomes in MEN2.
